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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LCT Gene

protein-coding   GIFtS: 62
GCID: GC02M136567

Lactase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
lactase1 2     Lactase-Phlorizin Hydrolase2
LPH2 3 5     Lactase-Phlorizin Hydrolase-12
LAC2 5     Lactase-glycosylceramidase3
LPH12     EC 3.2.18
lactase-glycosylceramidase2     

External Ids:    HGNC: 65301   Entrez Gene: 39382   Ensembl: ENSG000001158507   OMIM: 6032025   UniProtKB: P098483   

Export aliases for LCT gene to outside databases

Previous GC identifers: GC02M134200 GC02M134843 GC02M136756 GC02M136379 GC02M136261 GC02M128538


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LCT Gene:
The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma
membrane and has both phlorizin hydrolase activity and lactase activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for LCT Gene: 
LCT (lactase) is a protein-coding gene. Diseases associated with LCT include lactose intolerance, and congenital lactase deficiency, and among its related super-pathways are Galactose metabolism and Metabolic pathways. GO annotations related to this gene include cation binding and lactase activity. An important paralog of this gene is KL.

UniProtKB/Swiss-Prot: LPH_HUMAN, P09848
Function: LPH splits lactose in the small intestine




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LCT gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   STAT5A   POU3F2   NF-kappaB   Evi-1   C/EBPalpha   PPAR-alpha   COMP1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLCT promoter sequence
   Search SABiosciences Chromatin IP Primers for LCT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LCT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21   Ensembl cytogenetic band:  2q21.3   HGNC cytogenetic band: 2q21

LCT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LCT gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M136567:  view genomic region     (about GC identifiers)

Start:
136,545,410 bp from pter      End:
136,594,750 bp from pter
Size:
49,341 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LPH_HUMAN, P09848 (See protein sequence)
Recommended Name: Lactase-phlorizin hydrolase precursor  
Size: 1927 amino acids; 218587 Da
Subcellular location: Apical cell membrane; Single-pass type I membrane protein. Note=Brush border
Secondary accessions: Q4ZG58

Explore the universe of human proteins at neXtProt for LCT: NX_P09848

Explore proteomics data for LCT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09848

  • 3 DME Specific Peptides for LCT (P09848)
     YRFSISW  VTLFHWD  FPEGFLWG 

    LCT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LCT Protein Expression
    REFSEQ proteins: NP_002290.2  
    ENSEMBL proteins: 
     ENSP00000264162   ENSP00000391231  
    Reactome Protein details: P09848
    Human Recombinant Protein Products for LCT: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LCT 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS2460343
    GO:0016020membrane TAS2460343
    GO:0016324apical plasma membrane IEA--

    LCT for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for LCT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR001360 Glyco_hydro_1
     IPR018120 Glyco_hydro_1_AS
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P09848

    ProtoNet protein and cluster: P09848

    2 Blocks protein domains:
    IPB001360 Glycoside hydrolase
    IPB011580 6-phospho-beta-galactosidase


    UniProtKB/Swiss-Prot: LPH_HUMAN, P09848
    Domain: The sequence exhibits 4 regions (I-IV) of internal homology; therefore LPH might have evolved by two
    cycles of partial gene duplication
    Similarity: Belongs to the glycosyl hydrolase 1 family


    LCT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LPH_HUMAN, P09848
    Function: LPH splits lactose in the small intestine
    Catalytic activity: Lactose + H(2)O = D-galactose + D-glucose
    Catalytic activity: Glycosyl-N-acylsphingosine + H(2)O = N-acylsphingosine + a sugar

         Genatlas biochemistry entry for LCT:
    lactase/phlorizin hydrolase,beta-galactosidase from intestinal mucosa

         Enzyme Number (IUBMB): EC 3.2.12

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000016lactase activity TAS--
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0017042glycosylceramidase activity IEA--
         
    LCT for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LCT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LCT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LCT 
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    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LCT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.46
    Galactose metabolism0.46
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    4Digestion of dietary carbohydrate
    Digestion of dietary carbohydrate
    5Carbohydrate digestion and absorption
    Carbohydrate digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for LCT
        Galactose metabolism


    1 GeneGo (Thomson Reuters) Pathway for LCT
        Galactose metabolism

    3        Reactome Pathways for LCT
        Metabolism of carbohydrates
    Digestion of dietary carbohydrate
    Metabolism


    3         Kegg Pathways  (Kegg details for LCT):
        Galactose metabolism
    Metabolic pathways
    Carbohydrate digestion and absorption


    LCT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LCT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for LCT (P098482, 3 ENSP000002641624) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRCP129312, 3, ENSP000003509414MINT-3380750 I2D: score=1 STRING: ENSP00000350941
    HSPA5P110213, ENSP000003241734I2D: score=2 STRING: ENSP00000324173
    CANXP278243, ENSP000002474614I2D: score=2 STRING: ENSP00000247461
    AKR1B1ENSP000002859304STRING: ENSP00000285930
    B4GALT2ENSP000003492934STRING: ENSP00000349293
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0044245polysaccharide digestion TAS--
    GO:0044281small molecule metabolic process TAS--

    LCT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LCT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LCT (LPH)

    10/84 HMDB Compounds for LCT (see all 84)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3'-Ketolactose3'-dehydro-beta-D-galactosyl-beta-D-glucopyranoside (see all 3)15990-62-2--
    3-Keto-b-D-galactose3-dehydro-beta-D-galactose (see all 4)----
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Alpha-Lactose(+)-lactose (see all 40)63-42-3--
    Beta-D-Glucoseb-D-Glucopyranose (see all 8)492-61-5--
    Ceramide (d18:1/12:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    Ceramide (d18:1/16:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    Ceramide (d18:1/18:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    Ceramide (d18:1/20:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    Ceramide (d18:1/22:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--

    10 DrugBank Compounds for LCT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (1S,2S,3R,4S,5S)-2,3,4-TRIHYDROXY-5-(HYDROXYMETHYL)CYCLOHEXYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE-- --target--10592235
    2-Deoxy-2fluoro-Glucose-- --target--10592235
    2-HYDROXYMETHYL-6-OCTYLSULFANYL-TETRAHYDRO-PYRAN-3,4,5-TRIOL-- --target--10592235
    Alpha-D-Mannose-- 3458-28-4target--10592235
    D-Gluconhydroximo-1,5-Lactam-- --target--10592235
    ETHYL (1E)-2-PHENYL-N-(SULFOOXY)ETHANIMIDOTHIOATE-- --target--10592235
    Gluconolactone-- 90-80-2target--10592235
    Nojirimycine Tetrazole-- --target--10592235
    Vitamin CAscorbate (see all 6)50-81-7target--10592235
    alpha-D-Xylopyranose-- --target--10592235

    10/15 Novoseek inferred chemical compound relationships for LCT gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactose 87.3 67 9104037 (5), 20190045 (3), 1991109 (3), 1976654 (2) (see all 34)
    pyridoxine-5'-beta-d-glucoside 86.1 8 12221231 (2), 15051835 (2)
    phlorizin 84.4 31 19955176 (4), 11106409 (3), 7702213 (2), 11004241 (2) (see all 15)
    iptg 45.6 5 9277591 (1), 17486668 (1)
    galactose 43.5 9 20190045 (3), 18454942 (2), 11788828 (1)
    p-nitrophenol 28 2 15901356 (1)
    flavonoid 14.5 3 12594539 (1)
    hydrocortisone 12.6 1 7508390 (1)
    glucose 11.7 8 9104037 (3), 8349639 (1), 20190045 (1), 11788828 (1) (see all 5)
    hydrogen 11.2 2 17574225 (2)

    Search CenterWatch for drugs/clinical trials and news about LCT / LPH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LCT gene: 
    NM_002299.2  

    Unigene Cluster for LCT:

    Lactase
    Hs.551506  [show with all ESTs]
    Unigene Representative Sequence: NM_002299
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264162(uc002tuu.1) ENST00000452974
    miRNA
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    Additional mRNA sequence: X07994.1 

    3 DOTS entries:

    DT.208651  DT.100045877  DT.121014939 

    16 AceView cDNA sequences:

    NM_002299 AA377108 AW951427 BX092238 X07994 T29672 AA428424 CD614531 
    CD614527 AI742930 CD614529 AA912938 AY191611 CD614523 CD614525 AI742934 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LCT expression in normal human tissues (normalized intensities)      LCT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LCT Expression
    About this image


    LCT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Brain (Nervous System)
             Hippocampus

    See LCT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LCT

    SOURCE GeneReport for Unigene cluster: Hs.551506

    UniProtKB/Swiss-Prot: LPH_HUMAN, P09848
    Tissue specificity: Intestine

        SABiosciences Custom PCR Arrays for LCT
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LCT gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lct1 , 5 lactase1, 5 80.23(n)1
    80.15(a)1
      1 (55.80 cM)5
    2264131  NM_001081078.11  NP_001074547.11 
     1282847565 
    chicken
    (Gallus gallus)
    Aves LCT1 lactase 65.14(n)
    63.99(a)
      424294  NM_001111346.1  NP_001104816.1 
    lizard
    (Anolis carolinensis)
    Reptilia LCT6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    1(96715606-96760014)
    zebrafish
    (Danio rerio)
    Actinopterygii lct1 lactase 60.81(n)
    59.95(a)
      559107  XM_682414.4  XP_687506.4 
    soybean
    (Glycine max)
    eudicotyledons Gma.165152 Transcribed sequence with weak similarity to protein more 75.87(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.350442 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 79.9(n)    NM_193731.1 


    ENSEMBL Gene Tree for LCT (if available)
    TreeFam Gene Tree for LCT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LCT gene
    KL2  KLB2  LCTL2  GBA32  
    4 SIMAP similar genes for LCT using alignment to 4 protein entries:     LPH_HUMAN (see all proteins):
    LCTL    GBA3    KLB    KL

    LCT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1263 SNPs in LCT are shown (see all 1263)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0267084
    Congenital lactase deficiency (COLACD)4--see VAR_0267082 G S mis40--------
    VAR_0267064
    Congenital lactase deficiency (COLACD)4--see VAR_0267062 Q H mis40--------
    rs1219089361,2
    Cpathogenic1136064970(-) GCATAA/TCAGGT 2 * Y stg10--------
    rs1995093431,2
    Cuntested1136065225(+) CCATCA/GAGCCT 2 L syn10--------
    rs1890427931,2
    --136045410(+) CGTTTA/GGAACT 1 -- ds50010--------
    rs1502798341,2
    C--136045436(+) AGGAGA/GAAGGA 1 -- ds50010--------
    rs1423886921,2
    C--136045449(+) CAGAC-/TAAA  
            
    TGAAC
    1 -- ds50010--------
    rs1159864031,2
    C,F--136045489(+) GGCATA/GAAAAG 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs784555301,2
    --136045507(+) GGGGGG/TGTTCG 1 -- ds50010--------
    rs168320111,2
    C,F,H--136045565(+) GGAATA/GTAATG 1 -- ds500119Minor allele frequency- G:0.05NA NS EA WA 2362

    HapMap Linkage Disequilibrium report for LCT (136545410 - 136594750 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for LCT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2942CNV Insertion18451855
    nsv819525CNV Gain19587683


    Human Gene Mutation Database (HGMD): LCT
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603202   
    OMIM disorders: 223000  
    UniProtKB/Swiss-Prot: LPH_HUMAN, P09848
  • Congenital lactase deficiency (COLACD) [MIM:223000]: Autosomal recessive, rare and severe
    gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other
    lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients
    with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance,
    is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity
    during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon;
    however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose
    throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional
    level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/30 diseases for LCT (see all 30):    About MalaCards
    lactose intolerance    congenital lactase deficiency    lactose intolerance, adult type    bone fracture
    osteoporotic fracture    giardiasis    intestinal disease    protein-energy malnutrition
    food allergy    bone density    irritable bowel syndrome    gastroenteritis
    severe combined immunodeficiency    scoliosis    diarrhea    cataract
    celiac disease    crohn's disease    inflammatory bowel disease    acute myeloid leukemia

    6 diseases from the University of Copenhagen DISEASES database for LCT:
    Lactose intolerance     Diarrhea     Giardiasis     Irritable bowel syndrome
    Celiac disease     Intestinal disease

    LCT for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for LCT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactase deficiency, congenital 96.5 6 19161632 (1), 19432082 (1), 17345962 (1), 9779294 (1) (see all 5)
    hypolactasia, adult type 90.2 2 8514062 (2)
    lactose intolerance 89.9 18 1976654 (2), 12795467 (2), 17133732 (1), 16301215 (1) (see all 10)
    lactase deficiency 77.2 3 9758622 (2)
    malabsorption 26.4 1 19208354 (1)
    bowel disease 20.4 2 11332711 (1)
    colon carcinoma 6.72 1 15051835 (1)
    cancer 4.54 2 17596267 (2)

    Genetic Association Database (GAD): LCT
    Human Genome Epidemiology (HuGE) Navigator: LCT (77 documents)

    Export disorders for LCT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LCT gene, integrated from 9 sources (see all 209):
    (articles sorted by number of sources associating them with LCT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a variant associated with adult-type hypolactasia. (PubMed id 11788828)1, 2, 4, 9 Enattah N.S....Jaervelae I. (2002)
    2. Structure of the chromosomal gene and cDNAs coding for lactase- phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase. (PubMed id 1902057)1, 2, 9 Boll W.... Mantei N. (1991)
    3. Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. (PubMed id 12692047)1, 4, 9 Kuokkanen M....Jarvela I. (2003)
    4. Genetic testing for adult-type hypolactasia in Italian families. (PubMed id 18605960)1, 4, 9 Mottes M....Borgna-Pignatti C. (2008)
    5. Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation. (PubMed id 18454942)1, 4, 9 Karas-Kuzelicki N....Lukac-Bajalo J. (2008)
    6. Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: a matter of age? (PubMed id 17574225)1, 4, 9 Kerber M....Ledochowski M. (2007)
    7. Genotyping of the lactase-phlorizin hydrolase c/t-13910 polymorphism by means of a new rapid denaturing high-performance liquid chromatography-based assay in healthy subjects and colorectal cancer patients. (PubMed id 17478481)1, 4, 9 Piepoli A....Perri F. (2007)
    8. Genes related to the metabolism of nutrients in the Kola Sami population. (PubMed id 18468259)1, 4, 9 Kozlov A....Yankovsky N. (2008)
    9. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. (PubMed id 16400612)1, 2, 9 Kuokkanen M.... Jaervelae I. (2006)
    10. The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans. (PubMed id 15106124)1, 4, 9 Mulcare C.A....Thomas M.G. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3938 HGNC: 6530 AceView: LCT Ensembl:ENSG00000115850 euGenes: HUgn3938
    ECgene: LCT Kegg: 3938 H-InvDB: LCT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LCT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LCT
    Wikipedia http://en.wikipedia.org/wiki/Lactase
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt111.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LCT gene:
    Search GeneIP for patents involving LCT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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